chr13:32905129:A> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,905,129-32,905,129
hg38 chr13:32,330,992-32,330,992 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.755delA NP_000050.2:p.Asp252AlafsTer25
Ensemble ENST00000544455.6:c.755delA ENST00000544455.6:p.Asp252AlafsTer25
ENST00000380152.8:c.755delA ENST00000380152.8:p.Asp252AlafsTer25
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600185 OMIM
HGNC 1101 HGNC
Ensembl ENSG00000139618 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Pathogenic 2014-01-31 no assertion criteria provided hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Breast-ovarian cancer, familial, susceptibility to, 2 NA CLINVAR Detail
0.174 Breast Cancer, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.755del (p.Asp252fs) AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.755del (p.Asp252fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80359661 dbSNP
Genome
hg19
Position
chr13:32,905,129-32,905,129
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser